Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.707 0.379 1.3E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.607 0.517 2.6E-12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.648 0.517 1.3E-14
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.663 0.414 1.9E-13
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR
alpha-methylacyl-CoA racemase 0.536 0.655 1.9E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.636 0.586 8.6E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 11311
Gene Symbol: VPS45
VPS45
vacuolar protein sorting 45 homolog 0.743 0.276 5.4E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
dolichol kinase 0.727 0.310 1.1E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
NLR family pyrin domain containing 1 0.555 0.690 2.7E-17
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
FAST kinase domains 2 0.667 0.517 1.8E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.570 0.655 7.8E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23432
Gene Symbol: GPR161
GPR161
G protein-coupled receptor 161 0.815 0.241 3.6E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
ETHE1, persulfide dioxygenase 0.713 0.379 5.7E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23483
Gene Symbol: TGDS
TGDS
TDP-glucose 4,6-dehydratase 0.685 0.483 1.3E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.565 0.690 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23530
Gene Symbol: NNT
NNT
nicotinamide nucleotide transhydrogenase 0.720 0.241 0.99
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.584 0.621 2.7E-11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 23594
Gene Symbol: ORC6
ORC6
origin recognition complex subunit 6 0.636 0.517 4.7E-07
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 11222
Gene Symbol: MRPL3
MRPL3
mitochondrial ribosomal protein L3 0.799 0.241 1.7E-12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.701 0.310 6.0E-09
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
VPS33B, late endosome and lysosome associated 0.681 0.517 9.5E-17
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin, DNA replication inhibitor 0.604 0.655 0.12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.690 0.379 4.8E-11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.667 0.379 3.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS, ribosome maturation factor 0.616 0.552 3.5E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0